School of Myology - Workshop - Class 2002

Case No. 7

Clinical Setting

Male child. 3 yo. Neonatal hypotonia. Multiple contractures. CK: 800 U.

Pathology

Microscopy

Fibers varying in size, atrophic, rarely hyalinised with focal necrosis, and moderate endomysial fibrosis.

Gomori stain discloses a similar pattern, and enzymatic techniques are unremarkable.

Modifications are noted in the differente fiber types.

Immunohistochemistry with antibodies for the different dystrophins, and sarcoglycans is positive.

Alpha-5 laminin is negative, while other components of the merosin (alpha-2, beta, gamma-laminin) are positive.

Proposed diagnosis

Congenital muscular dystrophy, with merosin deficiency.

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